Investigation of modifier genes within copy number variations in Rett syndrome

Autor: Artuso, R, Papa, Ft, Grillo, E, Mucciolo, M, Yasui, Dh, Dunaway, Kw, Disciglio, Vittoria, Mencarelli, Ma, Pollazzon, M, Zappella, M, Hayek, G, Mari, Francesca, Renieri, Alessandra, Lasalle, Jm, Ariani, Francesca, Papa, FILOMENA TIZIANA

Publikováno v: Journal of human genetics, vol 56, iss 7
Journal of human genetics

MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT). We investigated whether copy number variants (CNVs) may modulate the phenotype by comparison of array-CGH data f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a023822f3649c0c99b874a58796df2a2
https://escholarship.org/uc/item/2gk4142t

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Autor: Sampieri, K, Amenduni, M, Papa, Ft, Katzaki, E, Mencarelli, Ma, Marozza, A, Epistolato, Mc, Toti, Paolo, Lazzi, Stefano, Bruttini, M, De Filippis, R, DE FRANCESCO, Sonia, Longo, I, Meloni, Ilaria, Mari, Francesca, Acquaviva, Antonio, Hadjistilianou, Theodora, Renieri, Alessandra, Ariani, Francesca, Papa, FILOMENA TIZIANA

In retinoblastoma, two RB1 mutations are necessary for tumor development. Recurrent genomic rearrangements may represent subsequent events required for retinoblastoma progression. Array-comparative genomic hybridization was carried out in 18 eye samp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::709b62a7d61e658b7cabb1b64c20a91a
http://hdl.handle.net/11365/20938

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

Autor: Uliana, V, Giordano, NICOLA GIUSEPPE, Caselli, R, Papa, Ft, Ariani, Francesca, Marcocci, C, Gianetti, E, Martini, Giuseppe, Papakostas, P, Rollo, F, Meloni, I, Mari, Francesca, Priolo, M, Renieri, Alessandra, Nuti, Ranuccio, Papa, FILOMENA TIZIANA

Publikováno v: ResearcherID

The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16f179bbbf55fc089129e18dcc51c04c
http://hdl.handle.net/11365/2856

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Autor: Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Delanne J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Centre de référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Racine C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Bruel AL; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Duffourd Y; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Lopergolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foudation, Pisa, Italy., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foudation, Pisa, Italy., Marchi V; Department of Developmental Neuroscience, Stella Maris Scientific Institute, IRCCS Fondazione Stella Maris Foundation, Pisa, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Valentino F; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Papa FT; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Fallerini C; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy., Mari F; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy., Munnich A; Service de Génétique Médicale et Clinique, Hôpital Necker Enfants Malades, Paris, France., Niclass T; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Centre de référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Philippe C; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32970. Date of Electronic Publication: 2024 Mar 08.

Topical Antiseptics in Minimizing Ocular Surface Bacterial Load Before Ophthalmic Surgery: A Randomized Controlled Trial.

Autor: Romano V; From the Eye Unit, ASST Spedali Civili di Brescia (V.R., F.S.), Brescia, Italy; Eye Unit, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia (V.R., Fr.G., F.S.), Brescia, Italy., Ferrara M; School of Medicine, University of Malaga (M.F.), Malaga, Spain. Electronic address: mariantonia.ferrara@gmail.com., Gatti F; Eye Unit, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia (V.R., Fr.G., F.S.), Brescia, Italy., Airaldi M; Department of Molecular and Translational Medicine, Università degli Studi di Brescia (M.A.), Brescia, Italy; St. Paul's Eye Unit, Royal Liverpool University Hospital (M.A.), Liverpool, United Kingdom., Borroni D; Eyemetagenomics Ltd, Covent Garden (D.B., C.R.-d.-l.), London, United Kingdom., Aragona E; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute (E.A.), Milan, Italy., Rocha-de-Lossada C; Eyemetagenomics Ltd, Covent Garden (D.B., C.R.-d.-l.), London, United Kingdom; Ophthalmology Department, QVision, Vithas Almería (C.R.-d.-l.), Almeria, Spain; Ophthalmology Department, Hospital Regional Universitario Málaga (C.R.-d.-l.), Malaga, Spain., Gabrielli F; Biolab SRL, Laboratorio di Genetica e Genomica Molecolare (Fe.G., F.T.P.), Ascoli Piceno, Italy., Papa FT; Biolab SRL, Laboratorio di Genetica e Genomica Molecolare (Fe.G., F.T.P.), Ascoli Piceno, Italy., Romano MR; Department of Biomedical Sciences, Humanitas University (M.R.R.), Milan, Italy; Department of Ophthalmology, Humanitas Gavazzeni-Castelli (M.R.R.), Bergamo, Italy., Calza S; Unit of Biostatistics and Bioinformatics, Department of Molecular and Translational Medicine, University of Brescia (S.C.), Brescia, Italy., Semeraro F; From the Eye Unit, ASST Spedali Civili di Brescia (V.R., F.S.), Brescia, Italy; Eye Unit, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia (V.R., Fr.G., F.S.), Brescia, Italy.

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2024 May; Vol. 261, pp. 165-175. Date of Electronic Publication: 2024 Jan 10.